5-60594451-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The variant allele was found at a frequency of 0.735 in 150,396 control chromosomes in the GnomAD database, including 41,789 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.73 ( 41789 hom., cov: 27)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.261
Variant links:

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ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.01).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.924 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt

Frequencies

GnomAD3 genomes
AF:
0.734
AC:
110367
AN:
150286
Hom.:
41728
Cov.:
27
show subpopulations
Gnomad AFR
AF:
0.932
Gnomad AMI
AF:
0.666
Gnomad AMR
AF:
0.697
Gnomad ASJ
AF:
0.708
Gnomad EAS
AF:
0.657
Gnomad SAS
AF:
0.560
Gnomad FIN
AF:
0.628
Gnomad MID
AF:
0.633
Gnomad NFE
AF:
0.661
Gnomad OTH
AF:
0.721
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.735
AC:
110476
AN:
150396
Hom.:
41789
Cov.:
27
AF XY:
0.728
AC XY:
53365
AN XY:
73290
show subpopulations
Gnomad4 AFR
AF:
0.932
Gnomad4 AMR
AF:
0.696
Gnomad4 ASJ
AF:
0.708
Gnomad4 EAS
AF:
0.657
Gnomad4 SAS
AF:
0.558
Gnomad4 FIN
AF:
0.628
Gnomad4 NFE
AF:
0.661
Gnomad4 OTH
AF:
0.723
Alfa
AF:
0.670
Hom.:
67750
Bravo
AF:
0.749
Asia WGS
AF:
0.671
AC:
2339
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-1.0
CADD
Benign
2.7
DANN
Benign
0.57

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs4326096; hg19: chr5-59890278; API